Le Bras Séverine, Geha Raif S
Division of Immunology, Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.
J Clin Invest. 2006 Jun;116(6):1473-5. doi: 10.1172/JCI28880.
Genetic defects in the transcription factor forkhead box protein P3 (Foxp3) cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX). IPEX is thought to be due to a defect in naturally arising CD4+ Tregs. In this issue of the JCI, Bacchetta and colleagues demonstrate that patients with IPEX and missense mutations in Foxp3 provide insight into the role of various domains of Foxp3 in the development and function of Tregs (see the related article beginning on page 1713).
转录因子叉头框蛋白P3（Foxp3）的基因缺陷会导致免疫失调、多内分泌腺病、肠病、X连锁（IPEX）。IPEX被认为是由于天然产生的CD4+调节性T细胞（Tregs）存在缺陷所致。在本期《临床研究杂志》中，巴切塔及其同事证明，患有IPEX且Foxp3存在错义突变的患者有助于深入了解Foxp3各个结构域在Tregs发育和功能中的作用（见第1713页开始的相关文章）。
